Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.V291L

GATA4

542 papers

RefSeq Summary

This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is tho...

Pfam Domains

GATA-Naa 1–205UCSCGATA-type transcription activator, N-terminal
GATAaa 11–45UCSCGATA zinc finger
GATAaa 65–99UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA binding protein 4

HGNC Previous Name

GATA-binding protein 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002052.5
p.V291L
c.871G>T
Surrounding Variants
2 papers
NM_002052.5
p.V291L
c.871G>C
5 papers
NM_002052.5
p.C292R
c.874T>C
1 paper
NM_002052.5
p.A294S
c.880G>T
1 paper
NM_001308093.3
p.A295D
c.884C>A
5 papers
NM_002052.5
p.A294V
c.881C>T
1 paper
NM_001308093.3
p.E288G
c.863A>G
1 paper
NM_001308093.3
p.E288K
c.862G>A
1 paper
NM_001308093.3
p.C296G
c.886T>G
2 papers
NM_001308093.3
p.A287V
c.860C>T
21 papers
NM_002052.5
p.G296S
c.886G>A
NM_001308093.3
p.G297S
c.889G>A
5 papers
NM_001308093.3
p.G297R
c.889G>C
NM_002052.5
p.G296R
c.886G>C
4 papers
NM_001308093.3
p.G297C
c.889G>T
NM_002052.5
p.G296C
c.886G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."